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Neurology Genetics
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February 2021; 7 (1) ArticleOpen Access

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra

Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, View ORCID ProfileRobert C. McKinstry, View ORCID ProfileMarwan S. Shinawi
First published January 12, 2021, DOI: https://doi.org/10.1212/NXG.0000000000000553
Annelise Y. Mah-Som
From the Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen’s University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children’s Hospital, Missouri.
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  • For correspondence: annelise.y.mah@gmail.com
Cristina Skrypnyk
From the Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen’s University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children’s Hospital, Missouri.
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  • For correspondence: cristinas@agu.edu.bh
Andrea Guerin
From the Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen’s University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children’s Hospital, Missouri.
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  • For correspondence: andrea.guerin@kingstonhsc.ca
Raafat Hammad Seroor Jadah
From the Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen’s University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children’s Hospital, Missouri.
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  • For correspondence: raafat.seroor@bdfmedical.org
Vinayak Nivrutti Vardhan
From the Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen’s University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children’s Hospital, Missouri.
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  • For correspondence: vinayak.vardhan@bdfmedical.org
Robert C. McKinstry
From the Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen’s University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children’s Hospital, Missouri.
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  • ORCID record for Robert C. McKinstry
  • For correspondence: mckinstryb@wustl.edu
Marwan S. Shinawi
From the Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen’s University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children’s Hospital, Missouri.
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  • ORCID record for Marwan S. Shinawi
Full PDF
Citation
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
Annelise Y. Mah-Som, Cristina Skrypnyk, Andrea Guerin, Raafat Hammad Seroor Jadah, Vinayak Nivrutti Vardhan, Robert C. McKinstry, Marwan S. Shinawi
Neurol Genet Feb 2021, 7 (1) e553; DOI: 10.1212/NXG.0000000000000553

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Article Information

vol. 7 no. 1 e553
DOI: 
https://doi.org/10.1212/NXG.0000000000000553

Published By: 
Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology
Online ISSN: 
2376-7839
History: 
  • Received May 22, 2020
  • Accepted in final form November 18, 2020
  • First Published January 12, 2021.

Copyright & Usage: 
Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

Author Disclosures

    1. Annelise Y. Mah-Som, MD, PhD (annelise.y.mah{at}gmail.com),
    2. Cristina Skrypnyk, MD, PhD (cristinas{at}agu.edu.bh),
    3. Andrea Guerin, MD, FRCPC, FCCMG (andrea.guerin{at}kingstonhsc.ca),
    4. Raafat Hammad Seroor Jadah, MBBCh, AB Ped, SB Ped (raafat.seroor{at}bdfmedical.org),
    5. Vinayak Nivrutti Vardhan, MBBS, DCH (vinayak.vardhan{at}bdfmedical.org),
    6. Robert C. McKinstry, MD, PhD (mckinstryb{at}wustl.edu) and
    7. Marwan S. Shinawi, MD
  1. Annelise Y. Mah-Som, MD, PhD (annelise.y.mah{at}gmail.com),
  2. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NIAID Kirschstein-NRSA Fellowship, 5F30AI129110, PI, 2017-2020

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  3. Cristina Skrypnyk, MD, PhD (cristinas{at}agu.edu.bh),
  4. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  5. Andrea Guerin, MD, FRCPC, FCCMG (andrea.guerin{at}kingstonhsc.ca),
  6. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  7. Raafat Hammad Seroor Jadah, MBBCh, AB Ped, SB Ped (raafat.seroor{at}bdfmedical.org),
  8. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  9. Vinayak Nivrutti Vardhan, MBBS, DCH (vinayak.vardhan{at}bdfmedical.org),
  10. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  11. Robert C. McKinstry, MD, PhD (mckinstryb{at}wustl.edu) and
  12. Scientific Advisory Boards:
    1. Commercial: Nous Imaging, Medical Advisory Board

    Gifts:
    1. NONE

    Funding for travel or speaker honoraria:
    1. Commercial: Siemens Healthineers: Travel, Lodging and Food. Philips Healthcare: Travel, Lodging and Food.

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. Commercial: Nous Imaging: Consulting fees

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NIH

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. March of Dimes

    Stock/Stock Options/Board of Directors Compensation:
    1. Commercial: Nouse Imaging. 1% equity in a closely held company. Stock/Stock Options, Medical Equipment & Materials: Nous Imaging

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  13. Marwan S. Shinawi, MD
  14. Scientific Advisory Boards:
    1. NONE

    Gifts:
    1. NONE

    Funding for Travel or Speaker Honoraria:
    1. NONE

    Editorial Boards:
    1. NONE

    Patents:
    1. NONE

    Publishing Royalties:
    1. NONE

    Employment, Commercial Entity:
    1. NONE

    Consultancies:
    1. NONE

    Speakers' Bureaus:
    1. NONE

    Other Activities:
    1. NONE

    Clinical Procedures or Imaging Studies:
    1. NONE

    Research Support, Commercial Entities:
    1. NONE

    Research Support, Government Entities:
    1. NONE

    Research Support, Academic Entities:
    1. NONE

    Research Support, Foundations and Societies:
    1. NONE

    Stock/Stock Options/Board of Directors Compensation:
    1. NONE

    License Fee Payments, Technology or Inventions:
    1. NONE

    Royalty Payments, Technology or Inventions:
    1. NONE

    Stock/Stock Options, Research Sponsor:
    1. NONE

    Stock/Stock Options, Medical Equipment & Materials:
    1. NONE

    Legal Proceedings:
    1. NONE

  1. From the Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen’s University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children’s Hospital, Missouri.
  1. Correspondence
    Dr. Shinawi mshinawi{at}wustl.edu
View Full Text

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